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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

AGL Gene

protein-coding GIFtS: 67
GCID: GC01P100315

amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase

(Previous names: amylo-1, 6-glucosidase, 4-alpha-glucanotransferase )

Explore 16 diseases affiliated with
AGL via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Amylo-Alpha-1, 6-Glucosidase, 4-Alpha-Glucanotransferase¹ ²
GDE² ³ ⁵
Amylo-1, 6-Glucosidase, 4-Alpha-Glucanotransferase¹ ²
Glycogen Debrancher² ³
Glycogen Debranching Enzyme²

External Ids:	HGNC: 321¹	Entrez Gene: 178²	Ensembl: ENSG00000162688⁷	OMIM: 610860⁵	UniProtKB: P35573³

Export aliases for AGL gene to outside databases

Previous GC identifers: GC01P101113 GC01P099441 GC01P099606 GC01P099778 GC01P100027 GC01P100088 GC01P098438

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for AGL:

This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two

independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity

and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a

wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing.

Alternatively spliced transcripts encoding different isoforms have been described. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: GDE_HUMAN, P35573

Function: Multifunctional enzyme acting as 1,4-alpha-D-glucan:1,4-alpha-D-glucan 4-alpha-D-glycosyltransferase and

amylo-1,6-glucosidase in glycogen degradation

Gene Wiki entry for AGL (Glycogen debranching enzyme)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NC_018912.1 NT_032977.9

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the AGL gene promoter:
STAT3
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: AGL promoter sequence

Search SABiosciences Chromatin IP Primers for AGL

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AGL

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p21 Ensembl cytogenetic band: 1p21.2 HGNC cytogenetic band: 1p21

AGL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AGL gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01P100315: view genomic region (about GC identifiers)

Start:	100,315,640 bp from pter	End:	100,389,579 bp from pter
Size:	73,940 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: GDE_HUMAN, P35573 (See protein sequence)

Recommended Name: Glycogen debranching enzyme

Size: 1532 amino acids; 174764 Da

Subunit: Monomer. Interacts with NHLRC1/malin

Subcellular location: Cytoplasm. Note=Under glycogenolytic conditions localizes to the nucleus

Sequence caution: Sequence=BAD92104.1; Type=Erroneous initiation;

Secondary accessions: A6NCX7 A6NEK2 D3DT51 P78354 P78544 Q59H92 Q6AZ90 Q9UF08

Alternative splicing: 3 isoforms: P35573-1 P35573-2 P35573-3 (Ref.2 (AAB48470) sequence is in conflict in position: 4:I->L)

Explore the universe of human proteins at neXtProt for AGL: NX_P35573

Post-translational modifications:

The N-terminus is blocked¹

Ubiquitinated¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P35573

AGL Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (6 alternative transcripts):

NP_000019.2 NP_000633.2 NP_000634.2 NP_000635.2 NP_000636.2 NP_000637.2

ENSEMBL proteins:

ENSP00000355106 ENSP00000359184 ENSP00000359182 ENSP00000294724 ENSP00000354971

ENSP00000354635 ENSP00000359180

Reactome Protein details: P35573
Human Recombinant Protein Products for AGL:

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	Uscn Proteins for AGL

Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005625	soluble fraction	--	--
GO:0005634	nucleus	IDA	--
GO:0005730	NOT nucleolus	IDA	--
GO:0005737	cytoplasm	IDA	--
GO:0005829	cytosol	TAS	--

AGL for ontologies About GeneDecksing

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Assay Products for AGL:

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	Uscn ELISAs and CLIAs for AGL

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

AGL for domains About GeneDecksing

5 InterPro domains/families:

IPR006421 Glycogen_debranch_met

IPR010401 GDE_C

IPR017853 Glycoside_hydrolase_SF

IPR008928 6-hairpin_glycosidase-like

IPR013781 Glyco_hydro_catalytic_dom

Graphical View of Domain Structure for InterPro Entry P35573

ProtoNet protein and cluster: P35573

UniProtKB/Swiss-Prot: GDE_HUMAN, P35573

Similarity: Belongs to the glycogen debranching enzyme family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: GDE_HUMAN, P35573

Function: Multifunctional enzyme acting as 1,4-alpha-D-glucan:1,4-alpha-D-glucan 4-alpha-D-glycosyltransferase and

amylo-1,6-glucosidase in glycogen degradation

Catalytic activity: Transfers a segment of a (1->4)-alpha-D-glucan to a new position in an acceptor, which may be

glucose or a (1->4)-alpha-D-glucan

Catalytic activity: Hydrolysis of (1->6)-alpha-D-glucosidic branch linkages in glycogen phosphorylase limit dextrin

Genatlas biochemistry entry for AGL:

amylo-1,6-glucosidase (4-alpha-glucantransferase),debranching enzyme,160kDa,glycogen catabolism) with liver,muscle

specific and four further minor alternatively spliced isoforms

Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004133	glycogen debranching enzyme activity	TAS	1374391
GO:0004134	4-alpha-glucanotransferase activity	IBA	--
GO:0004135	amylo-alpha-1,6-glucosidase activity	IBA	--
GO:0005515	protein binding	IPI	17908927
GO:0030247	polysaccharide binding	IEA	--

AGL for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for AGL:

Decreased DCP1a protein expres

Animal Models:

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AGL

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Glycogen breakdown (glycogenolysis)

Glycogen breakdown (glycogenolysis)

1.00

Glycogen Metabolism

0.35

Metabolism

Metabolism

1.00

Metabolic pathways

0.38

Galactose metabolism

Glycogen metabolism

0.40

Glycogen metabolism

0.40

Glucose metabolism

Glucose metabolism

1.00

MPS IIIC - Sanfilippo syndrome C

Metabolism of carbohydrates

0.47

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for AGL

Glycogen metabolism

1 GeneGo (Thomson Reuters) Pathway for AGL

Glycogen metabolism

1 BioSystems Pathway for AGL

Glycogen Metabolism

4 Reactome Pathways for AGL

	Metabolism of carbohydrates
	Glycogen breakdown (glycogenolysis)
	Metabolism
	Glucose metabolism

2 Kegg Pathways (Kegg details for AGL):

	Starch and sucrose metabolism
	Metabolic pathways

AGL for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for AGL

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/106 Interacting proteins for AGL (P35573³ ENSP00000294724⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 106)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PRKAA2	P54646³, ENSP00000360290⁴	I2D: score=3 STRING: ENSP00000360290
NHLRC1	Q6VVB1³, ENSP00000345464⁴	I2D: score=2 STRING: ENSP00000345464
SMAD3	P84022³, ENSP00000332973⁴	I2D: score=2 STRING: ENSP00000332973
POLR1B	Q9H9Y6³, ENSP00000263331⁴	I2D: score=1 STRING: ENSP00000263331
PYGL	P06737³, ENSP00000216392⁴	I2D: score=1 STRING: ENSP00000216392

About this table

Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005975	carbohydrate metabolic process	TAS	--
GO:0005977	glycogen metabolic process	--	--
GO:0005978	glycogen biosynthetic process	IEA	--
GO:0005980	glycogen catabolic process	TAS	--
GO:0006006	glucose metabolic process	TAS	--

AGL for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

AGL for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for AGL available from Tocris Bioscience About this table

Compound	Action	CAS #
1-Deoxynojirimycin	Glucosidase I and II inhibitor	[19130-96-2]

7 HMDB Compounds for AGL About this table

Compound	Synonyms	CAS #	PubMed Ids
Alpha-D-Glucose	Hexopyranose (see all 11)	492-62-6	--
Amylose	4-{(1,4)-alpha-D-Glucosyl}(n-1)-D-glucose (see all 12)	9005-82-7	--
D-Glucose	(+)-Glucose (see all 23)	50-99-7	--
D-Maltose	alpha-Malt sugar (see all 40)	69-79-4	--
Dextrin	Caloreen (see all 10)	9004-53-9	--
Glycogen	Animal starch (see all 5)	9005-79-2	--
Water	Dihydrogen oxide (see all 2)	7732-18-5	--

7 Novoseek chemical compound relationships for AGL gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
glycogen	86.2	224	19951495 (5), 9584265 (4), 19299494 (3), 8954797 (3) (see all 55)
icodextrin	71.4	2	16567418 (1), 17196294 (1)
starch	47	4	19884781 (1), 1499031 (1), 19428473 (1), 18499663 (1)
glucose	19.5	2	8611536 (1), 1991122 (1)
fluoride	15.2	1	1991122 (1)
creatinine	13.4	1	15199064 (1)
lactate	10	1	1293383 (1)

Search CenterWatch for drugs/clinical trials and news about AGL / GDE

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for AGL gene (6 alternative transcripts):

NM_000028.2 NM_000642.2 NM_000643.2 NM_000644.2 NM_000645.2 NM_000646.2

Unigene Cluster for AGL:

Amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase

Hs.904 [show with all ESTs]

Unigene Representative Sequence: NM_000028

8 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000361915(uc001dsi.1) ENST00000370165(uc001dsl.1) ENST00000370163(uc001dsk.1)

ENST00000294724(uc001dsj.1) ENST00000361302(uc001dsm.1) ENST00000361522(uc001dsn.1)

ENST00000477753 ENST00000370161

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Additional cDNA sequence:

AB208867.1 AB621804.1 AK130308.1 BC020705.1 BC057220.1 BC078663.1 M85168.1 U84007.1

U84008.1 U84009.1 U84010.1 U84011.1

8 DOTS entries:

DT.95276494 DT.92430323 DT.100793896 DT.92430324 DT.444749 DT.100025294 DT.100793897 DT.121379454

24/170 AceView cDNA sequences (see all 170):

AK130308 BM999394 CA390727 BU595048 AA476828 C05605 BX498417 AW182611

C00487 AV682868 BQ022584 BX499961 CF147446 BX092786 AI439128 AL597963

BC020705 BX482459 BX500784 BQ962659 BQ217878 BM806841 AU116995 T27720

GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for AGL (see all 8) About this scheme

ExUns:	1	^	2	^	3	^	4	^	5	^	6a	·	6b	^	7a	·	7b	^	8	^	9	^	10	^	11	^	12	^	13a	·	13b	^	14	^	15a	·	15b	^	16a	·	16b	^	17a	·	17b	·	17c	^	18	^	19	^
SP1:
SP2:					-
SP3:
SP4:
SP5:			-		-

ExUns:	20	^	21	^	22
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for AGL

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

AGL expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGAATTGTGA

About this image

AGL expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Primitive gut tube-like cells (A scalable, suspensi...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See AGL Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for AGL

SOURCE GeneReport for Unigene cluster: Hs.904

UniProtKB/Swiss-Prot: GDE_HUMAN, P35573

Tissue specificity: Liver, kidney and lymphoblastoid cells express predominantly isoform 1; whereas muscle and heart

express not only isoform 1, but also muscle-specific isoform mRNAs (isoforms 2, 3 and 4). Isoforms 5 and 6 are present

in both liver and muscle

SABiosciences Expression via Pathway-Focused PCR Array including AGL:

Glucose Metabolism in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AGL

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals and fungi.

Orthologs for AGL gene from 8/26 species (see all 26) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Agl^{1 , 5}	amylo-1,6-glucosidase, 4-alpha-glucanotransferase^{1, 5}	86.16(n)¹ 91.91(a)¹		3 (50.47 cM)⁵ 77559¹ NM_001081326.1¹ NP_001074795.1¹ 116743051⁵
chicken (Gallus gallus)	Aves	AGL¹	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	78.4(n) 81.78(a)		424474 XM_422317.3 XP_422317.2
lizard (Anolis carolinensis)	Reptilia	AGL⁶	--	80(a)	1 ↔ 1	4(93381565-93444764)
African clawed frog (Xenopus laevis)	Amphibia	Xl.22218²	Xenopus laevis transcribed sequence with moderate similarity more	76.08(n)		48034478
zebrafish (Danio rerio)	Actinopterygii	BM573587.1²	--	73.79(n)		BM573587.1
fruit fly (Drosophila melanogaster)	Insecta	CG9485^{1 , 3}	4-alpha-glucanotransferase³ CG9485¹	48(a)³ 52.15(n)¹ 48.92(a)¹		57D11³ 37435¹ NM_166444.1¹ NP_726062.2¹
worm (Caenorhabditis elegans)	Secernentea	R06A4.8³ agl-1¹	Alpha amylase³ Protein AGL-1¹	43(a)³ 51.07(n)¹ 46.24(a)¹		II(14346529-14353182)³ 175091¹ NM_064583.4¹ NP_496984.1¹
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	GDB1(YPR184W)⁴ GDB1¹	Glycogen debranching enzyme containing glucanotranferase more⁴ Gdb1p¹	51.36(n)¹ 44.26(a)¹		16(902044-906654)⁴ 856314^{1, 4} NP_015510.1^{1, 4}

ENSEMBL Gene Tree for AGL (if available)
TreeFam Gene Tree for AGL (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs113994126^1,2	C	pathogenic	100316614(+)	`GTAAAC/TAGATT`	9	Q *	stg¹ ut5¹		0	--	--	--	--
rs113994128^1,2	C	pathogenic	100340950(+)	`ATGAAC/TGACTG`	12	R *	stg¹		0	--	--	--	--
rs113994129^1,2	C	pathogenic	100346885(+)	`TAAGTA/GGAATC`	12	* W	stg¹		0	--	--	--	--
rs141309329^1,2		--	100313692(+)	`GATCTA/GGGTTC`	1	--	us2k¹		0	--	--	--	--
rs144726550^1,2		--	100313770(+)	`AGGCAC/TGTGCC`	1	--	us2k¹		0	--	--	--	--
rs138680449^1,2		--	100313910(+)	`TGGAGA/TCATCC`	1	--	us2k¹		0	--	--	--	--
rs192455549^1,2		--	100313952(+)	`CTATCC/TTCAAA`	1	--	us2k¹		0	--	--	--	--
rs141789730^1,2		--	100314011(+)	`CATCAC/GCCCCA`	1	--	us2k¹		0	--	--	--	--
rs184534631^1,2		--	100314024(+)	`CCCCCA/GACACA`	1	--	us2k¹		0	--	--	--	--
rs144606567^1,2		--	100314140(+)	`TTTCCC/TATAAA`	4	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for AGL (100315640 - 100389579 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for AGL
2 CNVs: 97450 3301
Human Gene Mutation Database (HGMD): AGL

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

AGL for disorders           About GeneDecksing

OMIM gene information: 610860
OMIM disorders: 232400
UniProtKB/Swiss-Prot: GDE_HUMAN, P35573

Defects in AGL are the cause of glycogen storage disease type 3 (GSD3) [MIM:232400]; also known as Forbes

disease. GSD3 is a metabolic disorder associated with an accumulation of abnormal glycogen with short outer chains.

Three GSD3 types are recognized: GSD type 3A patients lack glycogen debrancher enzyme activity in both liver and

muscle, while GSD type 3B patients are enzyme-deficient in liver only. In rare cases, selective loss of only 1 of the

2 debranching activities, glucosidase or transferase, results in GSD type 3C or type 3D, respectively. GSD3 is

clinically characterized by hepatomegaly, hypoglycemia, short stature, and variable myopathy

16 diseases for AGL: About MalaCards

glycogen storage disease glycogen storage disease type 0 glycogen storage disease iiib cat-scratch disease

glycogen storage disease iiia short stature liver cirrhosis hypertrophic cardiomyopathy

hypoglycemia hyperlipidemia metabolic disorders cardiomyopathy

myopathy hepatocellular carcinoma carcinoma hepatitis

4 diseases from the University of Copenhagen DISEASES database for AGL:

Glycogen storage disease Finger agnosia Autosomal recessive disease Hypoglycemia

10 Novoseek disease relationships for AGL gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
glycogen storage disease type iii	98.9	69	15542399 (2), 16705713 (2), 1293383 (2), 19299494 (2) (see all 35)
glycogen storage disease	89.6	10	11378828 (1), 9584265 (1), 17196294 (1), 10982190 (1) (see all 8)
hepatomegaly	67.2	8	8990006 (1), 18717245 (1), 19951495 (1), 17895567 (1)
enzyme deficiency	63.3	1	9332391 (1)
hypoglycemia	61.9	8	8990006 (1), 18717245 (1), 19951495 (1), 17895567 (1)
myopathy	53.6	1	1580445 (1)
hyperlipidemia	51.2	3	19951495 (1)
cardiomyopathy	45.7	4	17895567 (2), 1580445 (1), 18717245 (1)
short stature	37.2	3	19951495 (1)
liver cirrhosis	24.6	1	8553356 (1)

Genetic Association Database (GAD): AGL
Human Genome Epidemiology (HuGE) Navigator: AGL (3 documents)

Export disorders for AGL gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for AGL gene, integrated from 9 sources (see all 90):
(articles sorted by number of sources associating them with AGL)

Utopia: connect your pdf to the dynamic
world of online information

Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle. (PubMed id 8755644)^{1, 4, 9} Shen J....Chen Y.T. (1996)
Human glycogen debranching enzyme gene (AGL): complete structural organization and characterization of the 5' flanking region. (PubMed id 8954797)^{1, 2, 9} Bao Y.... Chen Y.-T. (1996)
Isolation and nucleotide sequence of human liver glycogen debranching enzyme mRNA: identification of multiple tissue-specific isoforms. (PubMed id 9332391)^{1, 2, 9} Bao Y.... Chen Y.-T. (1997)
A nonsense mutation due to a single base insertion in the 3'-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa. (PubMed id 8990006)^{1, 4, 9} Shen J....Chen Y.T. (1997)
Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands. (PubMed id 11378828)^{1, 4, 9} Santer R....Schaub J. (2001)
Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan. (PubMed id 10982190)^{1, 2, 9} Okubo M.... Murase T. (2000)
A novel donor splice site mutation in the glycogen debranching enzyme gene is associated with glycogen storage disease type III. (PubMed id 8702417)^{1, 4, 9} Okubo M....Murase T. (1996)
Assignment of the human glycogen debrancher gene to chromosome 1p21. (PubMed id 1505983)^{1, 3, 9} Yang-Feng T.L....Kao F.T. (1992)
A role for AGL ubiquitination in the glycogen storage disorders of Lafora and Cori's disease. (PubMed id 17908927)^{1, 2} Cheng A....Saltiel A.R. (2007)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 178	HGNC: 321	AceView: AGL	Ensembl:ENSG00000162688	euGenes: HUgn178
ECgene: AGL	Kegg: 178	H-InvDB: AGL

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for AGL	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/AGL

Intellectual Property for AGL gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for AGL gene:
Search GeneIP for patents involving AGL

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
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amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase

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AGL Gene

amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase

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